NM_203447.3(DOCK8):c.1044+13G>TRat Genome Database

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Variant : CV308141 (NM_203447.3(DOCK8):c.1044+13G>T) Homo sapiens

Symbol: CV308141
Name: NM_203447.3(DOCK8):c.1044+13G>T
RGD ID: 11603578
Condition: Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive [RCV000301184]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: DOCK8  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant
Evidence: clinical testing
HGVS Name(s): LRG_196t1:c.1044+13G>T
NM_203447.3:c.1044+13G>T
LRG_196:g.118320G>T
NG_017007.1:g.118320G>T
NC_000009.12:g.328184G>T
NC_000009.11:g.328184G>T
NM_001190458.2:c.840+13G>T
NM_001193536.1:c.840+13G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh389328,184 - 328,184CLINVAR
GRCh379328,184 - 328,184CLINVAR
Cytogenetic Map99p24.3CLINVAR
Trait Synonyms: AR hyperimmunoglobulin E syndrome; HIES autosomal recessive; Hyper Ig E syndrome, autosomal recessive; HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000301184 CLINVAR
dbSNP (RS) rs754374567 CLINVAR
MedGen C4722305 CLINVAR
NCBI Gene DOCK8 CLINVAR
OMIM 243700 CLINVAR
  611432 CLINVAR